A

Alcantara, Diana, Timms, Andrew E, Gripp, Karen, Baker, Laura, Park, Kaylee, Collins, Sarah, Cheng, Chi, Stewart, Fiona, Mehta, Sarju G, Saggar, Anand, Sztriha, László, Zombor, Melinda, Caluseriu, Oana, Mesterman, Ronit, Van Allen, Margot I, Jacquinet, Adeline, Ygberg, Sofia, Bernstein, Jonathan A, Wenger, Aaron M, Guturu, Harendra, Bejerano, Gill, Gomez-Ospina, Natalia, Lehman, Anna, Alfei, Enrico, Pantaleoni, Chiara, Conti, Valerio, Guerrini, Renzo, Moog, Ute, Graham Jr., John M, Hevner, Robert, Dobyns, William B, O'Driscoll, Mark and Mirzaa, Ghayda M (2017) Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain, 140 (10). pp. 2610-2622. ISSN 0006-8950

K

Karasozen, Yigit, Osbun, Joshua W, Parada, Carolina Angelica, Busald, Tina, Tatman, Philip, Gonzalez-Cuyar, Luis F, Hale, Christopher J, Alcantara, Diana, O'Driscoll, Mark, Dobyns, William B, Murray, Mitzi, Kim, Louis J, Byers, Peter, Dorschner, Michael O and Ferreira, Manuel (2019) Somatic PDGFRB activating variants in fusiform cerebral aneurysms. American Journal of Human Genetics, 104 (5). pp. 968-976. ISSN 1537-6605

R

Ramos, Eliana Marisa, Carecchio, Miryam, Lemos, Roberta, Ferreira, Joana, Legati, Andrea, Sears, Renee Louise, Hsu, Sandy Chan, Panteghini, Celeste, Magistrelli, Luca, Salsano, Ettore, Esposito, Silvia, Taroni, Franco, Richard, Anne-Claire, Tranchant, Christine, Anheim, Mathieu, Ayrignac, Xavier, Goizet, Cyril, Vidailhet, Marie, Maltete, David, Wallon, David, Frebourg, Thierry, Pimentel, Lylyan, Geschwind, Daniel H, Vanakker, Olivier, Galasko, Douglas, Fogel, Brent L, Innes, A Micheil, Ross, Alison, Dobyns, William B, Alcantara, Diana, O'Driscoll, Mark, Hannequin, Didier, Campion, Dominique, The French PBC Study group, , Oliveira, João R, Garavaglia, Barbara, Coppola, Giovanni and Nicolas, Gaël (2018) Primary brain calcification: an international study reporting novel variants and associated phenotypes. European Journal of Human Genetics, 26 (10). pp. 1462-1477. ISSN 1018-4813

S

Smith, C F (2006) [Letter to the editor] In response to Dr. Patel and Professor Moxham 'Attitudes of professional anatomists to curricular change'. Clinical Anatomy, 19 (8). pp. 780-781. ISSN 0897-3806

Smith, Claire France and Mathias, Haydn (2007) An investigation into medical students' approaches to anatomy learning in a systems-based prosection course. Clinical Anatomy, 20 (7). pp. 843-848. ISSN 0897-3806

Stanley, R L, Edwards, L J, Goodship, A E, Firth, E C and Patterson-Kane, J C (2008) Effects of exercise on tenocyte cellularity and tenocyte nuclear morphology in immature and mature equine digital tendons. Equine Veterinary Journal, 40 (2). pp. 141-146. ISSN 0425-1644

Stanley, R L, Maile, C and Piercy, R J (2009) Storage-associated artefact in equine muscle biopsy samples. Equine veterinary journal, 41 (1). pp. 82-86. ISSN 0425-1644

Stanley, R L, McCue, M E, Valberg, S J, Mickelson, J R, Mayhew, I G, McGowan, C, Hahn, C N, Patterson-Kane, J C and Piercy, R J (2009) A glycogen synthase 1 mutation associated with equine polysaccharide storage myopathy and exertional rhabdomyolysis occurs in a variety of UK breeds. Equine Veterinary Journal, 41 (6). pp. 597-601. ISSN 0425-1644

V

Van Esch, Hilde, Colnaghi, Rita, Freson, Kathleen, Starokadomskyy, Petro, Zankl, Andreas, Backx, Liesbeth, Abramowicz, Iga, Outwin, Emily, Rohena, Luis, Faulkner, Claire, Leong, Gary M, Newbury-Ecob, Ruth A, Challis, Rachel C, Õunap, Katrin, Jaeken, Jacques, Seuntjens, Eve, Devriendt, Koen, Burstein, Ezra, Low, Karen J and O'Driscoll, Mark (2019) Defective DNA polymerase α-primase leads to X-linked intellectual disability associated with severe growth retardation, microcephaly, and hypogonadism. American Journal of Human Genetics, 104 (5). pp. 957-967. ISSN 1537-6605